Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.157398207392968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6524298T>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA0753
Ensembl transcript ID ENST00000542606
Genbank transcript ID N/A
UniProt peptide Q2KHM9
alteration type single base exchange
alteration region CDS
DNA changes c.228A>T
cDNA.1088A>T
g.19950A>T
AA changes E76D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs9889363
databasehomozygous (A/A)heterozygousallele carriers
1000G25110401291
ExAC84261591524341
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5871
1.3221
(flanking)2.5871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained199480.54mu: AGGCTTTGGAATCTCTCCTGGATAAGAAACTGTCACCAAAA ctgg|ATAA
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76LQQIEALESLLEKKLSPKKVKKCF
mutated  all conserved    76LQQIEALESLLDKKLSPKKVKKC
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003784  385LQQIEALESLLEKKLSPKKVKKC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020807  367LQQIEALESLLEKKLSPKKAKKC
Ggallus  all identical  ENSGALG00000006011  376LMQVEDLISLLEKKQTPKKVKKC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000031158  328LQKVEDLNILLEEKISSHAKKMS
protein features
start (aa)end (aa)featuredetails 
250250CONFLICTE -> K (in Ref. 3; BAF85565).might get lost (downstream of altered splice site)
616642COILEDPotential.might get lost (downstream of altered splice site)
821821CONFLICTS -> G (in Ref. 1; BAA34473).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2007 / 2007
position (AA) of stopcodon in wt / mu AA sequence 669 / 669
position of stopcodon in wt / mu cDNA 2867 / 2867
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 861 / 861
chromosome 17
strand -1
last intron/exon boundary 2750
theoretical NMD boundary in CDS 1839
length of CDS 2007
coding sequence (CDS) position 228
cDNA position
(for ins/del: last normal base / first normal base)		 1088
gDNA position
(for ins/del: last normal base / first normal base)		 19950
chromosomal position
(for ins/del: last normal base / first normal base)		 6524298
original gDNA sequence snippet GCTTTGGAATCTCTCCTGGAAAAGAAACTGTCACCAAAAAA
altered gDNA sequence snippet GCTTTGGAATCTCTCCTGGATAAGAAACTGTCACCAAAAAA
original cDNA sequence snippet GCTTTGGAATCTCTCCTGGAAAAGAAACTGTCACCAAAAAA
altered cDNA sequence snippet GCTTTGGAATCTCTCCTGGATAAGAAACTGTCACCAAAAAA
wildtype AA sequence MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLEKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMQHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*
mutated AA sequence MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLDKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMQHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*
speed 1.29 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project